Since non-invasive prenatal tests (NIPT) first became available in early 2013, there have been changes to test methodologies and the emergence of new evidence about performance from various studies.
Sonic Genetics launched its NIPT services with the Harmony® prenatal test in 2015. In 202, we expanded our services to include a second assay, VeriSeq NIPT Solution v2. In December 2021, we withdrew the Harmony test. Both methods have been demonstrated to be highly accurate in identifying pregnancies in which there is one of the common trisomies (trisomy 21, 18 or 13) or an abnormal number of sex chromosomes. This compares to maternal serum biochemistry which can:
• miss as many as 15% of Down syndrome cases in pregnant women. The NIPT provided by Sonic Genetics accurately identifies more than 99% of cases.
• fail to correctly identify as many as 5% of chromosomally normal pregnancies The NIPT provided by Sonic Genetics accurately identifies 99.9% of chromosomally normal pregnancies.
• Indicate the presence of other disorders not detectable by NIPT albeit with limited accuracy.
Both NIPT methods can also screen, on request, for certain abnormalities in the number of sex chromosomes in a developing pregnancy and determine fetal sex; maternal serum biochemistry cannot provide this information.
The methods we use confirm that there is sufficient fetal DNA present in the maternal blood sample for a reliable result to be provided. If the quality metrics for a sample are inadequate, the risk of specific chromosome abnormalities will not be reported for that patient. In such circumstances, we may recommend a recollection and re-analysis (at no additional cost to the patient).
Performed in Australia
Sonic Genetics performs the NIPT in Australia at our accredited laboratories in Brisbane and Sydney. The NIPT assays we provide are included on the Australian Register of Therapeutic Goods.
Testing in Australia has several benefits:
• Faster result delivery
• Lower price (typically)
• Testing performed to Australian standards
• Less chance of the sample going missing, or reducing in quality due to long distances and overseas flights
• Patient data is secured to Australian standards
• Supporting local jobs and economy
Note: Some providers do not make it obvious that their tests are referred overseas.
We provide free genetic counselling as part of our NIPT service. Patients based in Australia, who have received a result indicating a raised likelihood of a fetal chromosome disorder and who have paid their local Sonic pathology practice for this test, are able to access telephone-based genetic counselling free of charge. Details about accessing this service are provided with every eligible NIPT report. Please note that this counselling is limited to addressing informational and psychological matters relating to this result. The genetic counsellor does not manage amniocentesis or other investigations; the patient’s doctor remains responsible for the subsequent management of the pregnancy. Genetic counselling is also available on a fee-for-service basis through independent private genetic counselling service; please refer to this list of genetic counselling services.
Genetic tests to confirm an NIPT result
We also provide comprehensive no-gap cytogenetics services for invasive prenatal testing to patients who have received an NIPT result indicating a raised likelihood of a fetal chromosome disorder and fulfil Medicare criteria. In this situation, the clinician ordering cytogenetic studies on the CVS or amniocentesis sample should note the NIPT result on the request form.